Variant report

Variant	nsv965351
Chromosome Location	chr3:196116295-196122043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr3:196118044-196118239	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr3:196120158-196120212	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:196117185-196117210	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:196116600..196119227-chr3:196123432..196124939,2	K562	blood:
2	chr3:196064795..196066351-chr3:196114531..196116314,2	K562	blood:
3	chr3:196115479..196118192-chr3:196129291..196130932,2	K562	blood:
4	chr3:196119980..196121933-chr3:196124713..196127635,2	K562	blood:

Variant related genes	Relation type
RN7SL738P	TF binding region
RNU6-1279P	TF binding region
ENSG00000273331	chromatin interactions
ENSG00000241868	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000243339	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191458180	chr3:196116336-196116337	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182444359	chr3:196116342-196116343	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576532260	chr3:196116353-196116354	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6774894	chr3:196116393-196116394	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs562176043	chr3:196116395-196116396	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529365978	chr3:196116404-196116405	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547510913	chr3:196116407-196116408	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534029718	chr3:196116417-196116418	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143887923	chr3:196116478-196116479	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552403825	chr3:196116539-196116540	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570666831	chr3:196116592-196116593	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76497386	chr3:196116638-196116639	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549733668	chr3:196116680-196116681	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187004922	chr3:196116682-196116683	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568274985	chr3:196116695-196116696	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535528578	chr3:196116701-196116702	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111294323	chr3:196116755-196116756	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191037629	chr3:196116764-196116765	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572067494	chr3:196116793-196116794	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539443071	chr3:196116839-196116840	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558388952	chr3:196116945-196116946	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567341859	chr3:196116955-196116956	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146887393	chr3:196116964-196116965	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543965792	chr3:196116976-196116977	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77382179	chr3:196117001-196117002	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562118133	chr3:196117014-196117015	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573927306	chr3:196117041-196117042	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541126553	chr3:196117054-196117055	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538081445	chr3:196117056-196117057	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559912893	chr3:196117089-196117090	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182281205	chr3:196117132-196117133	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140650669	chr3:196117141-196117142	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545090802	chr3:196117193-196117194	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34183890	chr3:196117198-196117199	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564379345	chr3:196117238-196117239	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373613972	chr3:196117240-196117241	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34289043	chr3:196117274-196117275	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145226581	chr3:196117302-196117303	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185858330	chr3:196117319-196117320	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149165667	chr3:196117340-196117341	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529148468	chr3:196117341-196117342	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547469295	chr3:196117352-196117353	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565789176	chr3:196117397-196117398	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539383889	chr3:196117411-196117412	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557488605	chr3:196117473-196117474	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569659693	chr3:196117551-196117552	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530163550	chr3:196117581-196117582	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537325341	chr3:196117582-196117583	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556063077	chr3:196117602-196117603	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75719779	chr3:196117622-196117623	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:196083600-196143800	Weak transcription	Psoas Muscle	Psoas
3	chr3:196084600-196131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:196088400-196116600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:196089400-196116400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:196089600-196150000	Weak transcription	Small Intestine	intestine
7	chr3:196094000-196116400	Weak transcription	Gastric	stomach
8	chr3:196094000-196126200	Weak transcription	Colonic Mucosa	Colon
9	chr3:196094200-196116400	Weak transcription	Esophagus	oesophagus
10	chr3:196095600-196144400	Weak transcription	Fetal Heart	heart
11	chr3:196098000-196126800	Weak transcription	Pancreas	Pancrea
12	chr3:196098400-196117000	Weak transcription	Brain Substantia Nigra	brain
13	chr3:196098600-196117000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:196102000-196117200	Weak transcription	NHEK	skin
15	chr3:196105600-196116400	Weak transcription	Spleen	Spleen
16	chr3:196106600-196116400	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:196107400-196116400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:196107600-196116400	Weak transcription	Left Ventricle	heart
19	chr3:196107600-196116400	Weak transcription	Right Ventricle	heart
20	chr3:196107800-196116400	Weak transcription	Aorta	Aorta
21	chr3:196107800-196116400	Weak transcription	Lung	lung
22	chr3:196108400-196116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:196108400-196116400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:196111200-196117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:196113000-196124600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:196113200-196116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:196113200-196116400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:196113200-196120000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr3:196113200-196136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:196113400-196119600	Weak transcription	Fetal Brain Male	brain
31	chr3:196113800-196116400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:196114600-196117200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr3:196114800-196118000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:196115000-196116600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr3:196115000-196118800	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:196115000-196121000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:196115200-196117800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:196115200-196118800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:196115200-196119800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:196115200-196120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:196115400-196116400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:196115400-196116600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:196115400-196116800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr3:196115400-196117200	Strong transcription	HMEC	breast
45	chr3:196115400-196117400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:196115400-196118000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr3:196115400-196118600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:196115400-196118600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:196115400-196118800	Strong transcription	Fetal Lung	lung
50	chr3:196115400-196118800	Strong transcription	Rectal Mucosa Donor 29	rectum

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